Dr J C Pompe

Dr J C Pompe
Discoverer of Pompe disease

About this blog

What you can read here is the story of the development of enzyme replacement therapy (ERT), the first effective treatment for Pompe disease. It is an incredible story, rich with events, characters and science. Above all, it is the story of an international community of scientists, doctors, patients and companies, working together towards a common goal.

It is not a story that features in Geeta Anand's book, The Cure , or the film based on it, Extraordinary Measures despite the fact that they are ostensibly about the development of ERT for Pompe ( you can link straight to the relevant articles covering the events described in the book and film here, here and here).

This blog represents my small attempt to set the record straight and to give the story back to its rightful owners - the international Pompe community. It is written here in roughly chronological order i.e. you'll need to start at the bottom of the April 2009 archive page and work your way up.

It is also a personal account and, although I've tried to make it as objective as possible, there is an inevitable degree of subjectivity. For that reason I have included contributions from other members of the worldwide Pompe community and would be delighted to receive more. Feedback is also welcome.

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Saturday, 6 February 2010

2003 - onwards and upwards

2003 signaled the end of one era and the beginning of another.  From now on, news of friends receiving ERT would begin to come thick and fast - every one of them a cause for rejoicing.

It would take until 29 March 2006 (Europe) and 28 April 2006 (USA) before the formal approval of Myozyme as a treatment.  However even that was not the end of the road - there are still issues around funding and, above all, ERT is a treatment, not a cure.

The fight goes on, carried out by an international community of patients, scientists, doctors and companies. I hope that others will contribute the rest of the story here.

I myself 'retired' from the Pompe scene at the end of 2003. It had been 10 years since Calum died and my dream of seeing an effective treatment for Pompe disease had come true. We wanted to remember our son for his short, but wonderful, time with us and not for his disease. There were other people better suited than I to do my remaining jobs. It was time to move on.


I go to many conferences as part of my work as well as personal activities and I can honestly say that the 2003 IPA conference remains the best I have ever been to. It was held on 31 October- 2 November, in Heidelberg, Germany.  Everything was superb: the location, the presentations, the cameradie, the beer...

The conference website and follow-up (including proceedings) are still available to read for yourself.

There was also a Q and A session released on the website and GSDNet.

That the conference was such a roaring success is in large part down to the organisers, Thomas Schaller, Birgit Wolf, Rita & Helmut Erny  from the German patient group.

Conference participants

However one other reason is that, here, for the first time, much of the talk was about success. Successful trials, successful enzyme production and the prospect of many more people being treated in the coming year. We had come a long way.

There was still a long way to go, of course, but as Marilyn House put it at the time " everyone came away with new sense of enthusiasm and cooperation for the treatment of Pompe's disease."



Before we get into the 2003 big picture, can I just step aside for a moment and mention something of huge significance for me. This was the year that, for the very first time, there was a UK clinical trial of ERT. This was at The Willink Centre in Manchester, under Dr Ed Wraith and co-workers. This was a dream come true and added to a growing feeling that my own part in the story, such as it was, was coming to a logical end.

2003 was again a year of solid progress. In retrospect, we had moved pretty clearly to a situation where we knew that ERT would be available. For many people, this was even more difficult than wondering if it would be available. It was now a waiting game, not a hoping game. In particular, many adult patients were wondering when it would be their turn to feature in a trial.

This led to occasional tensions. The IPA were in regular contact with Genzyme, yet much of this was under strict terms of confidentiality. This meant that information could not be passed on to the patients, who were - understandably - restive.

Nevertheless, a series of regular updates held things together.

Issue 10 of the Pompe's Bulletin came out in February, bringing people up to date on a whole range of things, including the Manchester trial.

There were regular Pompe Program updates (contents agreed between the IPA and Genzyme) of progress.

These were released on February 18, March 19 (Genzyme press release), September 10 (press release)

The latter brought the first news of adult onset trials and of 'Special Access' for patients who did not fit into clinical trials but who were in demonstrable need. This was a mark of Genzyme's success in ramping up production - they could not have made such promises without absolute confidence in supplies of enzyme.  From now on, alpha-glucosidase would be much more widely available, in advance of formal commercialisation.

As you can imagine, having been aware of developments through regular contact with Genzyme, it was a great feeling of relief to have them out in the public domain. It was recognised though that something bigger and public was needed to signal progress to patients. That something was the biggest and best Pompe event so far - the 2003 IPA Conference at Heidelberg in Germany.